ClinVar for Gene (Select 127602) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235764	NM_001367479.1(DNAH14):c.7133_7137del (p.Leu2377_Leu2378insTer)	DNAH14	Deletion (nonsense)	not provided	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3083670	NM_001367479.1(DNAH14):c.9826T>C (p.Cys3276Arg)	DNAH14 (C3276R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083669	NM_001367479.1(DNAH14):c.9686G>T (p.Arg3229Leu)	DNAH14 (R3229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083668	NM_001367479.1(DNAH14):c.9532G>A (p.Asp3178Asn)	DNAH14 (D3178N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083667	NM_001367479.1(DNAH14):c.9346C>T (p.Arg3116Trp)	DNAH14 (R3116W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083666	NM_001367479.1(DNAH14):c.9143G>A (p.Arg3048Gln)	DNAH14 (R3048Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083665	NM_001367479.1(DNAH14):c.8788T>C (p.Phe2930Leu)	DNAH14 (F2930L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083664	NM_001367479.1(DNAH14):c.8425G>A (p.Gly2809Arg)	DNAH14 (G2809R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083663	NM_001367479.1(DNAH14):c.8332A>G (p.Asn2778Asp)	DNAH14 (N2778D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083662	NM_001367479.1(DNAH14):c.7603C>T (p.Leu2535Phe)	DNAH14 (L2535F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083661	NM_001367479.1(DNAH14):c.7378A>G (p.Lys2460Glu)	DNAH14 (K2460E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083660	NM_001367479.1(DNAH14):c.7294G>A (p.Val2432Ile)	DNAH14 (V2432I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083659	NM_001367479.1(DNAH14):c.7268T>G (p.Leu2423Arg)	DNAH14 (L2423R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083658	NM_001367479.1(DNAH14):c.692T>C (p.Ile231Thr)	DNAH14 (I181T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083657	NM_001367479.1(DNAH14):c.649A>G (p.Lys217Glu)	DNAH14 (K167E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083656	NM_001367479.1(DNAH14):c.6272G>T (p.Cys2091Phe)	DNAH14 (C2091F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083655	NM_001367479.1(DNAH14):c.6169T>G (p.Cys2057Gly)	DNAH14 (C2057G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083654	NM_001367479.1(DNAH14):c.6013G>T (p.Val2005Leu)	DNAH14 (V2005L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083653	NM_001367479.1(DNAH14):c.5927A>G (p.Asp1976Gly)	DNAH14 (D1976G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083652	NM_001367479.1(DNAH14):c.5896C>T (p.Leu1966Phe)	DNAH14 (L1966F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083650	NM_001367479.1(DNAH14):c.5206A>G (p.Asn1736Asp)	DNAH14 (N1736D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083649	NM_001367479.1(DNAH14):c.5104A>C (p.Ile1702Leu)	DNAH14 (I1702L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083648	NM_001367479.1(DNAH14):c.5057G>A (p.Arg1686His)	DNAH14 (R1686H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083647	NM_001367479.1(DNAH14):c.4967G>A (p.Arg1656His)	DNAH14 (R1656H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083646	NM_001367479.1(DNAH14):c.4601G>C (p.Cys1534Ser)	DNAH14 (C1534S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083645	NM_001367479.1(DNAH14):c.4541A>T (p.Lys1514Met)	DNAH14 (K1514M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083644	NM_001367479.1(DNAH14):c.4152C>A (p.Phe1384Leu)	DNAH14 (F1384L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083643	NM_001367479.1(DNAH14):c.4142A>C (p.Lys1381Thr)	DNAH14 (K1381T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083642	NM_001367479.1(DNAH14):c.3879A>T (p.Glu1293Asp)	DNAH14 (E1293D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083641	NM_001367479.1(DNAH14):c.3731T>A (p.Val1244Glu)	DNAH14 (V1244E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083640	NM_001367479.1(DNAH14):c.341C>T (p.Ala114Val)	DNAH14 (A114V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3083639	NM_001367479.1(DNAH14):c.3353A>G (p.Asn1118Ser)	DNAH14 (N1118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083638	NM_001367479.1(DNAH14):c.3347A>C (p.Glu1116Ala)	DNAH14 (E1116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083637	NM_001367479.1(DNAH14):c.2990C>T (p.Thr997Ile)	DNAH14 (T997I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083636	NM_001367479.1(DNAH14):c.2975T>C (p.Ile992Thr)	DNAH14 (I992T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083635	NM_001367479.1(DNAH14):c.2652A>T (p.Lys884Asn)	DNAH14 (K884N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083634	NM_001367479.1(DNAH14):c.2627T>C (p.Leu876Pro)	DNAH14 (L876P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083633	NM_001367479.1(DNAH14):c.2357A>G (p.Asn786Ser)	DNAH14 (N786S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083632	NM_001367479.1(DNAH14):c.2354A>G (p.Asp785Gly)	DNAH14 (D785G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083631	NM_001367479.1(DNAH14):c.2348A>T (p.Tyr783Phe)	DNAH14 (Y783F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083630	NM_001367479.1(DNAH14):c.1918A>G (p.Ile640Val)	DNAH14 (I640V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083629	NM_001367479.1(DNAH14):c.1760T>C (p.Ile587Thr)	DNAH14 (I587T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083628	NM_001367479.1(DNAH14):c.1613A>C (p.His538Pro)	DNAH14 (H538P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083627	NM_001367479.1(DNAH14):c.1441A>C (p.Ile481Leu)	DNAH14 (I481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083626	NM_001367479.1(DNAH14):c.13636A>C (p.Lys4546Gln)	DNAH14 (K4546Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083625	NM_001367479.1(DNAH14):c.13621T>C (p.Tyr4541His)	DNAH14 (Y4541H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083624	NM_001367479.1(DNAH14):c.13502C>T (p.Ser4501Phe)	DNAH14 (S4501F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083623	NM_001367479.1(DNAH14):c.13436A>G (p.Glu4479Gly)	DNAH14 (E4479G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083622	NM_001367479.1(DNAH14):c.13370G>A (p.Arg4457Gln)	DNAH14 (R4457Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083621	NM_001367479.1(DNAH14):c.13084G>A (p.Ala4362Thr)	DNAH14 (A4362T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083620	NM_001367479.1(DNAH14):c.12836T>G (p.Met4279Arg)	DNAH14 (M4279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083619	NM_001367479.1(DNAH14):c.12644C>A (p.Thr4215Asn)	DNAH14 (T4215N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083618	NM_001367479.1(DNAH14):c.12500G>A (p.Ser4167Asn)	DNAH14 (S4167N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083617	NM_001367479.1(DNAH14):c.12458T>C (p.Leu4153Pro)	DNAH14 (L4153P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083616	NM_001367479.1(DNAH14):c.12422T>C (p.Ile4141Thr)	DNAH14 (I4141T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083615	NM_001367479.1(DNAH14):c.12416G>A (p.Arg4139Gln)	DNAH14 (R4139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083614	NM_001367479.1(DNAH14):c.12413G>A (p.Gly4138Asp)	DNAH14 (G4138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083613	NM_001367479.1(DNAH14):c.12238A>T (p.Asn4080Tyr)	DNAH14 (N4080Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083612	NM_001367479.1(DNAH14):c.12050A>G (p.Tyr4017Cys)	DNAH14 (Y4017C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083611	NM_001367479.1(DNAH14):c.11780T>C (p.Ile3927Thr)	DNAH14 (I3927T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083610	NM_001367479.1(DNAH14):c.11375C>T (p.Thr3792Ile)	DNAH14 (T3792I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083609	NM_001367479.1(DNAH14):c.11137T>A (p.Phe3713Ile)	DNAH14 (F3713I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083608	NM_001367479.1(DNAH14):c.11068A>G (p.Ile3690Val)	DNAH14 (I3690V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083607	NM_001367479.1(DNAH14):c.11063G>A (p.Ser3688Asn)	DNAH14 (S3688N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083606	NM_001367479.1(DNAH14):c.11005A>G (p.Ile3669Val)	DNAH14 (I3669V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083605	NM_001367479.1(DNAH14):c.10955G>C (p.Ser3652Thr)	DNAH14 (S3652T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083604	NM_001367479.1(DNAH14):c.10753C>T (p.Arg3585Cys)	DNAH14 (R3585C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083603	NM_001367479.1(DNAH14):c.10730T>C (p.Met3577Thr)	DNAH14 (M3577T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3083602	NM_001367479.1(DNAH14):c.10712C>T (p.Thr3571Ile)	DNAH14 (T3571I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3083601	NM_001367479.1(DNAH14):c.10342A>G (p.Lys3448Glu)	DNAH14 (K3448E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067499	NM_001367479.1(DNAH14):c.13498G>A (p.Ala4500Thr)	DNAH14 (A4500T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3056432	NM_001367479.1(DNAH14):c.651+1G>A	DNAH14	Single nucleotide variant (splice donor variant +1 more)	DNAH14-related disorder	GLikely benign
Select item 3052480	NM_001367479.1(DNAH14):c.295A>G (p.Arg99Gly)	DNAH14 (R99G)	Single nucleotide variant (missense variant +1 more)	DNAH14-related disorder	GLikely benign
Select item 3049223	NM_001367479.1(DNAH14):c.2113A>G (p.Met705Val)	DNAH14 (M705V)	Single nucleotide variant (missense variant)	DNAH14-related disorder	GLikely benign
Select item 3042918	NM_001367479.1(DNAH14):c.6568dup (p.Ile2190fs)	DNAH14 (I2190fs)	Duplication (frameshift variant)	DNAH14-related disorder	GLikely benign
Select item 3041663	NM_001367479.1(DNAH14):c.4255-50TA[7]	DNAH14	Microsatellite (intron variant)	DNAH14-related disorder	GLikely benign
Select item 3033978	NM_001367479.1(DNAH14):c.55G>T (p.Glu19Ter)	DNAH14 (E19*)	Single nucleotide variant (nonsense)	DNAH14-related disorder	GLikely benign
Select item 3030715	NM_001367479.1(DNAH14):c.2028A>G (p.Arg676=)	DNAH14	Single nucleotide variant (synonymous variant)	DNAH14-related disorder	GLikely benign
Select item 3029448	NM_001367479.1(DNAH14):c.12571C>T (p.Gln4191Ter)	DNAH14 (Q4191*)	Single nucleotide variant (nonsense)	DNAH14-related disorder	GUncertain significance
Select item 3025616	NM_001367479.1(DNAH14):c.7408C>G (p.Arg2470Gly)	DNAH14 (R2470G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921250	NM_001367479.1(DNAH14):c.767+2T>C	DNAH14	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 2692533	NM_001367479.1(DNAH14):c.11240dup (p.Leu3747fs)	DNAH14 (L3747fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2692532	NM_001367479.1(DNAH14):c.846_847delinsAT (p.His282_His283delinsGlnTyr)	DNAH14	Indel (missense variant)	not provided	GUncertain significance
Select item 2688956	NM_001367479.1(DNAH14):c.857T>A (p.Leu286Ter)	DNAH14 (L263* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2688955	NM_001367479.1(DNAH14):c.3248G>A (p.Trp1083Ter)	DNAH14 (W1083*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2688954	NM_001367479.1(DNAH14):c.862dup (p.Asp288fs)	DNAH14 (D265fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2685854	GRCh37/hg19 1q42.12(chr1:225217641-225271723)x1	DNAH14	Copy number loss	not provided	GUncertain significance
Select item 2683757	NM_001367479.1(DNAH14):c.3697C>T (p.Gln1233Ter)	DNAH14 (Q1233*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2663399	NM_001367479.1(DNAH14):c.1972A>T (p.Ile658Leu)	DNAH14 (I658L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662734	NM_001367479.1(DNAH14):c.2845G>A (p.Ala949Thr)	DNAH14 (A949T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662462	NM_001367479.1(DNAH14):c.7775G>A (p.Arg2592His)	DNAH14 (R2592H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639960	NM_001367479.1(DNAH14):c.13854A>T (p.Ter4618Tyr)	DNAH14	Single nucleotide variant (stop lost)	DNAH14-related disorder +1 more	GLikely benign
Select item 2639959	NM_001367479.1(DNAH14):c.13690G>A (p.Ala4564Thr)	DNAH14 (A4564T)	Single nucleotide variant (missense variant)	DNAH14-related disorder +1 more	GLikely benign
Select item 2639958	NM_001367479.1(DNAH14):c.13558C>T (p.Arg4520Cys)	DNAH14 (R4520C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639957	NM_001367479.1(DNAH14):c.13480del (p.Arg4494fs)	DNAH14 (R4494fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2639956	NM_001367479.1(DNAH14):c.12885C>T (p.His4295=)	DNAH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639955	NM_001367479.1(DNAH14):c.12717-5dup	DNAH14	Duplication (intron variant)	not provided	GLikely benign
Select item 2639954	NM_001367479.1(DNAH14):c.12478G>A (p.Glu4160Lys)	DNAH14 (E4160K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2639953	NM_001367479.1(DNAH14):c.11562G>A (p.Thr3854=)	DNAH14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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